Medical and Scientific Advisory Board
We are incredibly fortunate to have the world’s leading medical doctors and scientific researchers as advisors to our organization. Not only are these individuals experts in the clinical care of ASXL syndromes and the scientific understanding of the ASXL genes, they are also passionate about helping families improve the quality of life for their loved ones. These advisors lead the ASXL Patient Registry, are subject matter experts on the care of ASXL syndromes and research, and provide expert guidance on our scientific direction.
Bianca Russell, MD
University of California, Los Angeles
Dr. Bianca Russell is a clinical geneticist at University of California, Los Angeles (UCLA) who sees patients with metabolic and genetic conditions. She has been following patients with ASXL-related disorder since 2013 and has made this the research focus of her career. She started the ASXL Patient Registry as a resident at Cincinnati Children's and expanded it to include a biobank when she transitioned to UCLA.
Dr. Bianca Russell received her bachelors degree from Connecticut College in New London, Connecticut in 2008 and her medical degree from the University of California, Irvine in 2013. She completed her residency in Pediatrics and Human Genetics at the Cincinnati Children's Hospital in Cincinnati, Ohio.
Wen-Hann Tan, BMBS
Boston Children’s Hospital
Dr. Wen-Hann Tan a clinical geneticist at Boston Children's Hospital with an interest in diagnosis and management of rare genetic syndromes, including pediatric cancer predisposition syndromes, vascular malformations, and other unusual clinical findings. He has also been actively involved in a longitudinal natural history study and various clinical trials in Angelman syndrome, which is a rare neurodevelopmental disorder.
Feng-Chung Yang, PhD
UT Health San Antonio
Dr. Yang is an established investigator in the field of stem cell biology and myeloid malignancies. She is a Professor of Cell Systems and Anatomy at UT Health San Antonio where her area of research is in molecular mechanisms involved in genetic disease and cancer. Dr. Yang has been studying the cellular and molecular mechanisms underlying the pathogenesis of BOS and myeloid malignancies. The ultimate goal of her research is to identify novel therapeutic targets and to develop rational therapies to treat myeloid malignancies and BOS. She has authored over 90 peer-reviewed papers in the field of research and is a member of several professional societies. Dr. Yang also serves on the review boards for numerous professional journals and funding agencies.
Stephanie Bielas, PhD
University of Michigan
Dr. Bielas is an Assistant Professor in the Department of Human Genetics at the University of Michigan Medical School. Research in her lab focuses on discovering the genetic basis o human neurodevelopmental disorders and developing functional assays to validate the pathogenicity of deleterious alleles. Human neurogenetic findings provide a platform from which toe investigate molecular and developmental pathogenesis of associated disorders. In this endeavor, she uses human pluripotent stem cells (hPSCs) and mouse models. Her lab identified de novo dominant truncating variants in the ASXL3 (Additional-sex combs like 3) as the genetic basis of Bainbridge-Ropers Syndrome (BRS) and dysregulation of histone H2A mono-ubiquitination as key molecular pathology in patient derived cells. Her research is providing important insight into the impact of clinically relevant pathogenic ASXL3 variants on brain and heart development.